- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:21549340)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 4/7. (PMID:21549340)
- Hitchhiker thumb (HP:0001234): With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. (OMIM:614078)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 4/8. (PMID:21549340)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. (OMIM:614078)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: PCS. Frequency: 2/8. (PMID:21549340)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. (OMIM:614078)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: PCS. Frequency: 4/4. (PMID:21549340)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Knee dislocation (HP:0004976). Evidence: PCS. Frequency: 5/8. (PMID:21549340)
- Radial head subluxation (HP:0003048): Partial dislocation of the head of the radius. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 4/4. (PMID:21549340)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Capitate-hamate fusion (HP:0001241). Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Recurrent patellar dislocation (HP:0005001): Patellar dislocation occurring repeated times. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Hyperphalangy of the 4th finger (HP:6000865): An accessory phalanx of the fourth (ring) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. Evidence: PCS. (PMID:22887726)
- Irregular epiphyses of the metacarpals (HP:0009190): Irregular radiographic opacity of the epiphyses of the metacarpals. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21549340)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: PCS. Frequency: 2/4. (PMID:21549340)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 1/4. (PMID:21549340)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 4/4. (PMID:21549340)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. (OMIM:614078)
These phenotypes are associated with the disease chondrodysplasia with joint dislocations, gPAPP type (OMIM:614078).